Varaico: Literature-Extracted Genetic Variants

KRIT1

475 papers

RefSeq Summary

This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. ...

Pfam Domains

NUDIX_5aa 22–198UCSCNUDIX, or N-terminal NPxY motif-rich, region of KRIT

Ankaa 320–353UCSCAnkyrin repeat

Ankaa 355–387UCSCAnkyrin repeat

FERM_Maa 517–640UCSCFERM central domain

KRIT1_FRMD8_FERM_Caa 656–721UCSCKRIT1/FRMD8, FERM domain C-lobe

Gene Aliases

HGNC Name

KRIT1 ankyrin repeat containing

HGNC Previous Symbol

CCM1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_194454.3

p.W330Splc

c.989+63C>T

Surrounding Variants

9 papers

NM_194454.3

p.W330Splc

c.989+63C>G

1 paper

NM_194454.3

p.W330Splc

c.989+8G>C

4 papers

NM_194454.3

p.W330fs

c.988_989fs

6 papers

NM_194454.3

p.C329*

c.987C>A

1 paper

NM_194454.3

p.Y327*

c.981T>G

1 paper

NM_194454.3

p.Y327*

c.981T>A

2 papers

NM_194454.3

p.A323_P324insFs

c.968_971dup4

3 papers

NM_194454.3

p.W322*

c.966G>A

2 papers

NM_194454.3

p.W322*

c.965G>A

1 paper

NM_194454.3

p.D318fs

c.952_953fs

1 paper

NM_194454.3

p.L317fs

c.949_950fs

1 paper

NM_194454.3

p.Q316insFs

c.947_948insAC